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Table 1 The results of high-throughout sequencing and bioinformatics analysis of peripheral blood genomic DNA. It showed that 13 breakpoints on chromosome 6, 11,16 and 18. There were 3 breakpoints on chromosome 6, including 6q22.31 (122,832,871), 6q22.31 (125,055,682), 6q23.3 (138,438,243) and 2.2 Mb deletion; 3 breakpoints on chromosome 11, including 11p14.3 (25,427,432), 11q14.1 (82,431,656), 11q14.1 (84,346,157); 1 breakpoint on chromosome 16 including16q22.1(68,295,707); 6 breakpoints on chromosome 18 including 18p11.31 (4,265,706), 18q12.2 (33,329,662), 18q21.1 (46,251,913), 18q21.2 (48,694,348), 18q21.31 (54,118,504), 18q22.1 (63,838,338). And 2.2 Mb deletion on chromosome 6 included 8 genes of ATP5LP2, CLVS2, FABP7, NKAIN2, PKIB, RN7SL564P, SMPDL3A, TRDN on 6q22.31; there were complex rearrangements between chromosomes 6, 11, 16, and 18, involved breaks of 4 genes, namelyPLA2G15, DLG2, DLGAP1-AS5, and CTIF

From: Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques

Breakpoint

Gene

6q22.31(122,832,871)

–

6q22.31(125,055,682)

–

6q23.3(138,438,243)

–

11p14.3(25,427,432)

–

11q14.1(82,431,656)

–

11q14.1(84,346,157)

DLG2

16q22.1(68,295,707)

PLA2G15

18p11.31(4,265,706)

DLGAP1-AS5

18q12.2(33,329,662)

–

18q21.1(46,251,913)

CTIF

18q21.2(48,694,348)

–

18q21.31(54,118,504)

–

18q22.1(63,838,338)

–

6q22.31(122,832,871–125,055,682)

ATP5LP2,CLVS2,FABP7,NKAIN2,PKIB,RN7SL564P,SMPDL3A,TRDN